ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.2470C>T (p.Pro824Ser)

gnomAD frequency: 0.00008  dbSNP: rs1284163110
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001765939 SCV002000624 likely benign not provided 2021-04-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001765939 SCV002431856 benign not provided 2025-01-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458762 SCV004179605 likely benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing

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